GILLESPIE-SYNDROME, ANIRIDIA IN A PREMATURE TWIN

Opgen-Rhein B.¹, Seibt I², Schachinger H²

¹Dept. of Paediatrics, St. Josef-Krankenhaus, Berlin, Germany, ²Dept. of Neonatology, EWK, Berlin, Germany.

OBJECTIVE: Bilateral aniridia defined as dilated pupils and absent or hypoplastic rim of the iris is a rare finding in newborn infants. We report an early diagnosis of Gillespie's syndrome in a premature twin and discuss the differential diagnosis.

Case report: We present a male twin with an gestational age of 29 weeks suffering from severe Infant Respiratory Distress Syndrome. Aniridia was detected on physical examination and was confirmed by an ophthalmologist. There was no response to local miotics. Abdominal ultrasonography revealed no nephroblastoma. Genetic tests showed no gross abnormality especially, no deletion of the chromosome 1 Ip and no mutation of the PAX6-gen. On early neurologic evaluation the child presents with generalised decreased muscle tone, opisthotonus and nystagm. At follow-up at 6 month there is ataxia, continuous rocking movements and rolling of both eyes.

DISCUSSION: There are several known aetiologies of aniridia. Mutations of PAX6 llpl3 leads to isolated aniridia (AN 2). The continuous gene syndrome called WAGR-syndrome shows extensive deletion of llpl3 including WT 1 and is leading to the association of aniridia, hemihypertrophy and other congenital anomalies especially genitourinary defects and bilateral Wilms tumour.

So far there is no known genetic defect producing Gillespie's-Syndrome. Patients are showing partial aniridia with 'festooned' edge and iris strands extending to the anterior lens surface at regular intervals. This finding is considered characteristic. Furthermore there is retardation of psychomotoric development, cerebellar ataxia and mental retardation. There may be cerebral and cerebellar hypoplasia with white matter changes detectable later in infancy by MRI.

CONCLUSION: Aniridia is a significant finding in newborn infants. A characteristic partial aniridia and unexplained neurologic pathology should be suspicious for Gillespie's syndrome and close developmental follow up should be initiated. There is need for molecular genetic work-up to rule out AN 2 and WAGR-Syndrome. Aniridia is treated symptomatic with self-regulating sunglasses or cataract surgery.